What Is human genetic research?

The basis for many, if not most, diseases can be found in our genes. Genes and their protein products determine how we look and develop, how efficiently we process foods, how effectively we detoxify poisons and how vigorously we respond to infections. It is thought that more than 4,000 diseases arise from changed or mutated genes that are inherited from one’s mother and/or father. Common disorders such as age-related macular degeneration, diabetes, heart disease and most cancers arise from a complex communication between multiple genes and between genes and factors in our environment. Genetic research studies are aimed at identifying these genes and understanding how changes in these genes lead to disease. The benefits of human genetic research include medical breakthroughs made possible because of the combined commitment of participants and researchers. Identifying a gene opens many new diagnostic and treatment possibilities including earlier diagnosis of inherited eye diseases. Researchers also work to determine exactly what causes a particular eye disease and why the same disease does not effect everyone in the same way. As a result, researchers hope to develop improved treatment for specific eye diseases such as glaucoma and inherited retinal diseases including AMD. These discoveries will lead to improved eye care for future patients.

What Is genetic testing?

Genetic tests, also called DNA-based tests, are some of the newest and most sophisticated techniques that we can use to test for genetic diseases. Most tests involve looking directly at the DNA in a specific disease-associated gene. The actual information of each gene is carried within the DNA itself. The DNA can be taken from cells in a sample of blood or, occasionally, from other body fluids or tissues. Testing allows ophthalmologists to confirm diagnoses and help patients understand their risks for certain inherited eye diseases.

Are genetic study participants all patients at Kellogg?

Not necessarily. Enrollment involves donating a blood sample one time only and providing medical and family history information. This can all be done long distance. There is no cost to the participant.

What Is genetic counseling?

Genetic counseling is a communication process which deals with the human problems associated with the occurrence, or the risk of occurrence, of a genetic disorder or birth defect in a family. As part of this process, the patient obtains information regarding diagnosis, treatment, prognosis and inheritance of the genetic condition or birth defect of concern to the family. In some cases genetic testing is available for specific genetic diseases.